The overall goal of this proposal is to determine genetic factors involved in human craniofacial and limb development. The specific aim of this project is to evaluate the clinical phenotype of patients with craniofacial and limb disorders. This clinical database will be used toward correlating phenotypes with genotypes. This information will assist in mapping and cloning genes responsible for craniofacial and limb disorders and developing accurate diagnostic criteria. To implement this project 1) patients and their families with genetic craniofacial and limb disorders such as the mandibulofacial dysostotic and craniosynostotic syndromes will be enrolled, 2) medical histories and clinical and diagnostic examinations will be performed, and 3) blood samples will be drawn for chromosomal analyses and establishment of lymphoblastoid cell cultures as a source for DNA.